日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina

单细胞分析揭示了发育中的人类视网膜睫状缘中存在瞬时视网膜祖细胞

Birthe Dorgau #, Joseph Collin #, Agata Rozanska, Darin Zerti, Adrienne Unsworth, Moira Crosier, Rafiqul Hussain, Jonathan Coxhead, Tamil Dhanaseelan, Aara Patel, Jane C Sowden, David R FitzPatrick, Rachel Queen, Majlinda Lako

Robust Genetic Analysis of the X-Linked Anophthalmic (Ie) Mouse

连锁无眼畸形 (Ie) 小鼠的稳健遗传分析

Brianda A Hernandez-Moran, Andrew S Papanastasiou, David Parry, Alison Meynert, Philippe Gautier, Graeme Grimes, Ian R Adams, Violeta Trejo-Reveles, Hemant Bengani, Margaret Keighren, Ian J Jackson, David J Adams, David R FitzPatrick, Joe Rainger

Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect

Cornelia de Lange 综合征相关突变导致 DNA 损伤信号和修复缺陷

Gabrielle Olley, Madapura M Pradeepa, Graeme R Grimes, Sandra Piquet, Sophie E Polo, David R FitzPatrick, Wendy A Bickmore, Charlene Boumendil

Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome

精原细胞的突变偏差影响人类基因组中调控位点的解剖结构

Vera B Kaiser, Lana Talmane, Yatendra Kumar, Fiona Semple, Marie MacLennan; Deciphering Developmental Disorders Study; David R FitzPatrick, Martin S Taylor #, Colin A Semple #

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

转录共抑制因子ZMYM2的突变导致综合征性泌尿道畸形

Dervla M Connaughton,Rufeng Dai,Danielle J Owen,Jonathan Marquez,Nina Mann,Adda L Graham-Paquin,Makiko Nakayama,Etienne Coyaud,Estelle M N Laurent,Jonathan R St-Germain,Lot Snijders Blok,Arianna Vino,Verena Klämbt,Konstantin Deutsch,Chen-Han Wilfred Wu,Caroline M Kolvenbach,Franziska Kause,Isabel Ottlewski,Ronen Schneider,Thomas M Kitzler,Amar J Majmundar,Florian Buerger,Ana C Onuchic-Whitford,Mao Youying,Amy Kolb,Daanya Salmanullah,Evan Chen,Amelie T van der Ven,Jia Rao,Hadas Ityel,Steve Seltzsam,Johanna M Rieke,Jing Chen,Asaf Vivante,Daw-Yang Hwang,Stefan Kohl,Gabriel C Dworschak,Tobias Hermle,Mariëlle Alders,Tobias Bartolomaeus,Stuart B Bauer,Michelle A Baum,Eva H Brilstra,Thomas D Challman,Jacob Zyskind,Carrie E Costin , Katrina M Dipple , Floor A Duijkers , Marcia Ferguson , David R Fitzpatrick , Roger Fick , Ian A Glass , Peter J Hulick , Antonie D Kline , Ilona Krey , Selvin Kumar , Weining Lu , Elysa J Marco , Ingrid M Wentzensen,Heather C Mefford , Konrad Platzer,Inna S Povolotskaya , Juliann M Savatt,Natalia V Shcherbakova , Prabha Senguttuvan , Audrey E Squire , Deborah R Stein,Isabelle Thiffault , Victoria Y Voinova , Michael J G Somers,Michael A Ferguson,Avram Z Traum,Ghaleb H Daouk,Ankana Daga,Nancy M Rodig,Paulien A Terhal,Ellen van Binsbergen,Loai A Eid , Velibor Tasic , Hila Milo Rasouly , Tze Y Lim , Dina F Ahram , Ali G Gharavi , Heiko M Reutter , Heidi L Rehm , Daniel G MacArthur , Monkol Lek , Kristen M Laricchia , Richard P Lifton , Hong Xu,Shrikant M Mane , Simone Sanna-Cherchi , Andrew D Sharrocks,Brian Raught,Simon E Fisher , Maxime Bouchard,Mustafa K Khokha,Shirlee Shril,Friedhelm Hildebrandt

Contribution of retrotransposition to developmental disorders

逆转录转座对发育障碍的贡献

Eugene J Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E Samocha, Juliet Handsaker, Sebastian S Gerety, Holly Ironfield, Patrick J Short, Alejandro Sifrim, Tarjinder Singh, Kate E Chandler, Emma Clement, Katherine L Lachlan, Katrina Prescott, Elisabeth Rosser, David R FitzPatrick,

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

BRD4 与 NIPBL 相互作用,且 BRD4 突变与 Cornelia de Lange 样综合征有关。

Gabrielle Olley # ,Morad Ansari # ,Hemant Bengani ,Graeme R Grimes ,James Rhodes ,Alex von Kriegsheim ,Ana Blatnik ,Fiona J Stewart ,Emma Wakeling ,Nicola Carroll ,Alison Ross ,Soo-Mi Park ,Madapura M Pradeepa ,David R FitzPatrick

The RNA-binding landscape of RBM10 and its role in alternative splicing regulation in models of mouse early development

RBM10 的 RNA 结合情况及其在小鼠早期发育模型中选择性剪接调控中的作用

Julie Rodor, David R FitzPatrick, Eduardo Eyras, Javier F Cáceres

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

瓦堡微综合征是由 RAB18 缺陷或失调引起的

Mark T Handley, Sarah M Carpanini, Girish R Mali, Duska J Sidjanin, Irene A Aligianis, Ian J Jackson, David R FitzPatrick

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

SATB2 或其长距离顺式调控被 SOX9 破坏,导致 Pierre Robin 序列综合征

Jacqueline K Rainger, Shipra Bhatia, Hemant Bengani, Philippe Gautier, Joe Rainger, Matt Pearson, Morad Ansari, Jayne Crow, Felicity Mehendale, Bozena Palinkasova, Michael J Dixon, Pamela J Thompson, Mar Matarin, Sanjay M Sisodiya, Dirk A Kleinjan, David R Fitzpatrick